title: Detection of monosomy 7 in interphase cells of patients with myeloid disorders.
abstract: Six patients, five with acute myeloid leukemia (AML) and one with a myelodysplastic syndrome (MDS), were found to have monosomy 7 by conventional cytogenetics at diagnosis. Repetitive DNA sequences from the heterochromatic region of human chromosomes 1 and 7 were used as probes for in situ hybridization experiments on interphase cells of these patients. A double hybridization protocol was used to reveal the particular chromosomes as distinct spots or clusters of signals within interphase nuclei. The chromosome 1 sequence served as an internal control. Simultaneous detection of the sequences showed the presence of two normal number 1 chromosomes and a missing 7 chromosome from individual cells. While cytogenetic preparations showed only -7 metaphases in 3 AML and 1 MDS patients, in situ hybridization of interphase cells showed many normal cells as well as the presence of -7 in fully mature granulocytes. One AML patient studied in remission showed only normal metaphases yet had 9% interphase cells with a missing 7 and relapsed within 3 months. We conclude that examination of interphase cells by in situ hybridization provides clinically useful data since every cell including mature granulocytes can be examined, the lineage of a cell can be determined, and efficacy of differentiation therapy can be evaluated.
authors.affiliation: Department of Human Genetics, Roswell Park Memorial Institute, Buffalo, New York.
authors.forename: R V
authors.initials: RV
authors.lastname: Kolluri
authors.forename: L
authors.initials: L
authors.lastname: Manuelidis
authors.forename: T
authors.initials: T
authors.lastname: Cremer
authors.forename: S
authors.initials: S
authors.lastname: Sait
authors.forename: S
authors.initials: S
authors.lastname: Gezer
authors.forename: A
authors.initials: A
authors.lastname: Raza
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA; D006801:Humans; D007399:Interphase; D007948:Leukemia, Monocytic, Acute / Q000235:genetics* / Q000473:pathology; D008677:Metaphase; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D009693:Nucleic Acid Hybridization; D010641:Phenotype
chemical_list: D004247:DNA